Decoding NF1 Intragenic Copy-Number Variations

American Journal of Human Genetics

Volumn 97, Issue 2, 2015, Pages 238-249

  Hsiao, Meng Chang ^a   Piotrowski, Arkadiusz ^a,b   Callens, Tom ^a   Fu, Chuanhua ^a   Wimmer, Katharina ^c   Claes, Kathleen B M ^d   Messiaen, Ludwine ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b MEDICAL UNIVERSITY OF GDANSK   (Poland)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR FACTOR I; NEUROFIBROMIN;

ALU SEQUENCE; ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DNA REPLICATION; GENE REARRANGEMENT; HUMAN; HUMAN GENOME; MOLECULAR PATHOLOGY; NEUROFIBROMATOSIS TYPE 1; PHAKOMATOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEGMENTAL DUPLICATION; SEQUENCE HOMOLOGY; CHROMOSOME BREAKAGE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; NUCLEOTIDE SEQUENCE; PROCEDURES;

CHROMOSOME BREAKPOINTS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; POLYMERASE CHAIN REACTION;

EID: 84938993397     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.06.002     Document Type: Article

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